Open Access Medical Books


Edited by Michael Fitzgerald .

802 pages .
Open Access .

The pace of research on Autism Spectrum Disorders (ASD) can only be described as extraordinary as this volume shows. It is extremely difficult for any single professional to keep abreast of all the developments in this area. This volume gathers together leading researchers and expert clinicians from many different parts of the world to produce this "up-to-theminute" volume. It gives an in depth view of many areas of research which may be unfamiliar to the clinician and indeed researcher focused on their own area of interest. The volume gives an in depth overview of the field of Autism Spectrum Disorders. The best outcome for Autism Spectrum Disorders occurs where there is an early diagnosis at around two years. Unfortunately this is only achieved in a minority of persons with ASD as described in the first section on diagnosis and prevalence. Siller et al describes the strategy for improving the situation. Information from non-English speaking countries is critical to a global understanding of Autism Spectrum Disorders. Samadi and McConkey provide this for Iran. Benjak does this for Croatia.
The brain/gut axis has a long and controversial history in autism. Sajdel-Sulkowska et al produced some new findings in relation to the "leaky gut" during development, abnormalities in the gut microbiome and effects on the brain. This area of research remains an exciting proposition.
The non-relationship between vaccines and autism is covered in two important chapters by Bustin and De Soto. The focus on immune dysregulation in ASD by Ponzio et al is an area of increasing importance and a particularly useful method of research is the mouse model.
Immune problems have been observed at a clinical level for a long time in ASDs.
Another important chapter using an animal model is by Gottfried et al who focused on Valproac acid in pregnancy and associated autistic features in offspring. Romero-Munguia describes a very interesting mnesic imbalance or hyperthymestic syndrome as a cause of autism symptoms in Shereshevskii, a man whose memory was studied by Luria. The understanding of the aetiology of Autism Spectrum Disorders clearly has to pay large attention to genetic factors. This very rapidly expanding field of study is dealt with in great depth in a number of chapters by some of the foremost researchers on this topic in the world. Larsen et al discusses the genetic evaluation of individuals with ASD including genetic screening tests. Fett-Conte focuses on candidate genes, copy number variations, epigenetics and exome sequencing. Lupski and Lacario focus on mouse models in a number of conditions including autism.
Connolly et al notes the relative scarcity of causal common variants and the growing list of casual rare variants. Gill et al's chapter on the genetic architecture of autism and related disorders gives an excellent overview of genetic linkage and association. They also discuss mutation rates and models of risk in autism as well as next generation sequencing studies.
Guney et al focus on genetic and environmental factors. They make reference to the intrauterine environment and pre-natal stress.Alqallafet al study the genetic origins of autism.
There is a wide spectrum of interventions for ASD. The earlier the intervention, the better the outcome. Healy et al describes early intensive behavioural intervention (EIBI) which reduces the cost of lifelong care by as much as two thirds. It is an intervention that draws from Applied Behaviour Analysis. They also noted a study where an 'eclectic' treatment group showed significantly greater increase in adaptive functions than the EIBI. I have observed in my clinical practice that where behavioural interventions were applied too intensively that a number of children developed post traumatic stress disorders and of course there are also the problems with generalisation of gains made from behavioural interventions. Lal et al describes the floor time approach that focuses on unique challenges and strengths of children with ASD. The child is the director or leader of activities. It has shown positive results and of course behavioural interventions narrowly applied do not suit all children and families.
Thunberg reviews early communication intervention for children with ASD's and uses evidence/ grading which is very helpful. Interventions need to be continuous and include follow ups with the possibility for booster interventions. Nadon et al examines feeding issues with persons with ASDs-a major problem. Graduated exposure food therapy and food fading are described. Passerino et al focuses on building on alternative communication system using context-centred design. It focuses on the re-organisation of the persons with ASD's relations with the world. Developing assistive technology for alternative communication is a very important development. Riesgo et al has an important chapter on the management and treatment of ASD. They provide detailed information on psychopharmacological interventions as well as non- medical approaches and in addition provide a commentary on their effectiveness. Urbano et al focus on the understudied area of sexuality and ASD. They provide an overview and describe treatment in this very sensitive area. I have observed criminal charges being brought against a number of persons with ASD because of errors of
judgment in the sexuality area.
A person with Autism Spectrum Disorder places great challenges on the family. The chapter on empowering families in the treatment of autism by Elder is very pertinent. Families are the primary providers of services on the advice of professionals and support groups. This collaboration is explored by Kalyva who provides a parent/professional protocol which is very valuable in improving this relationship. The parental issue is further elaborated in the chapter on addressing communication difficulties in parents of children with Autism Spectrum Disorders by Fernanda Dreux Miranda Fernandes et al.
Another overview chapter by O’Malley on Foetal Alcohol Syndrome Disorders and ASD is particularly important. This is a big global problem in terms of alcohol use during pregnancy.
This topic will become of increasing importance in the years to come. De Vaan et al focuses on another somewhat neglected area that is ASD in people with sensory issues. In my experience persons with sensory issues should always be assessed for ASD.
Russell discusses the topic of co-occurrence of developmental disorders. This is extremely common and we now realise that there is much overlap between developmental disorders (Fitzgerald 2012). The categorical approach to diagnosis has now been shown to be limited and the dimensional approach is clearly a way forward. There is also an overlap in some genetic findings between disorders. Fairthorne et al's chapter on ASD and intellectual disability focuses on the pre-existing differences in their mothers. Immigrant mothers were more likely to have a child with ASD. Smoking during pregnancy has been associated with ASD and intellectual disability.
There are problems in using the Autism Diagnostic Interview Revised (Lord et al 1994) in clinical practice. It ,not uncommonly, misses high functioning autism and according to Ventola et al (2006) is "under diagnosing toddlers". It is an extremely expensive instrument to train on which makes it almost impossible for under-developed countries because of the major cost of training on the instrument. Professor Dorothy Bishop (Feinstein 2010) points out in relation to the length of this interview that there is no evidence for such a long process - "it is more an article of faith to them". I have seen quite a few families with a person with ASD who are negative on the ADI-R come to me in tears because of the missed diagnosis.
An atypical sense of self is central to understanding autism. Lyons et al explores the psychological and neuropathological aspects of self in autism. It is important when discussing autism not to always focus on the negative and on purely the disability (Fitzgerald 2004).
Lyons et al examines the positive aspects of ASD in a critical evaluation of the concept of autistic creativity.

Professor Michael Fitzgerald
Consultant Child & Adult Psychiatrist
Trinity College, Dublin


Section 1 of the textbook : Prevalence and Diagnosis .

1 Promoting Early Identification of Autism in the Primary Care Setting: Bridging the Gap Between What We Know and What We Do 3 Michael Siller, Lindee Morgan, Meghan Swanson and Emily Hotez

2 Indicators of Autism in Iranian Children 29 
Sayyed Ali Samadi and Roy McConkey

3 Prevalence of Pervasive Developmental Disorders – Croatia in 
Comparison with Other Countries of the World 49 
Tomislav Benjak and Gorka Vuletić

Section 2 of the textbook : Aetiological Factors - General Overview .

4 Gut Microbiome and Brain-Gut Axis in Autism — Aberrant 
Development of Gut-Brain Communication and Reward 
Circuitry 61 
Elizabeth M. Sajdel-Sulkowska and Romuald Zabielski

5 Why There Is no Link Between Measles Virus and Autism 81 
Stephen A. Bustin

6 Vaccine Safety Study as an Interesting Case of 
"Over-Matching" 99 
M. Catherine DeSoto and Robert T. Hitlan

7 Pro-Inflammatory Phenotype Induced by Maternal Immune 
Stimulation During Pregnancy 113 
Nicholas M. Ponzio, Mili Mandal, Stella Elkabes, Pan Zhang, Junichi 
Sadoshima, Sayantani Basak, Peiyong Zhai and Robert Donnelly

8 Valproic Acid in Autism Spectrum Disorder: From an 
Environmental Risk Factor to a Reliable Animal Model 143 
Carmem Gottfried, Victorio Bambini-Junior, Diego Baronio, 
Geancarlo Zanatta, Roberta Bristot Silvestrin, Tamara Vaccaro and 
Rudimar Riesgo

9 Mnesic Imbalance or Hyperthymestic Syndrome as Cause of 
Autism Symptoms in Shereshevskii 165 
Miguel Ángel Romero-Munguía

Section 3 of the textbook : Aetiological Factors - Genetics .

10 Genetic Evaluation of Individuals with Autism Spectrum 
Disorders 191 
Eric C. Larsen, Catherine Croft Swanwick and Sharmila Banerjee- 

11 Genetic Etiology of Autism 215 
Agnes Cristina Fett-Conte, Ana Luiza Bossolani-Martins and Patrícia 

12 Advances in Autism Research – The Genomic 
Basis of ASD 249 
Melanie Lacaria and James R. Lupski

13 Autism Spectrum Disorders: Insights from Genomics 275 
John J. Connolly and Hakon Hakonarson

14 The Genetic Architecture of Autism and Related 
Conditions 299 
Michael Gill, Graham Kenny and Richard Anney

15 Genetic and Environmental Factors in Autism 321 
Esra Guney and Elvan Iseri

16 Discovering the Genetics of Autism 341 
Abdullah K. Alqallaf, Fuad M. Alkoot and Mash’el S. Aldabbous

Section 4 of the textbook : Aetiological Factors - Co-Morbidity .

17 Co-Occurrence of Developmental Disorders: Children Who 
Share Symptoms of Autism, Dyslexia and Attention Deficit 
Hyperactivity Disorder 361 
Ginny Russell and Zsuzsa Pavelka

18 Pre-Existing Differences in Mothers of Children with Autism 
Spectrum Disorder and/or Intellectual Disability: 
A Review 387 
Jenny Fairthorne, Amanda Langridge, Jenny Bourke and Helen 

Section 5 of the textbook : Aetiological Factors - Sensory Issues, Foetal Alcohol Syndrome and Relationships .

19 Relationships, Sexuality, and Intimacy in Autism Spectrum 
Disorders 427 
Maria R. Urbano, Kathrin Hartmann, Stephen I. Deutsch, Gina M. 
Bondi Polychronopoulos and Vanessa Dorbin

20 Clinical Implications of a Link Between Fetal Alcohol Spectrum 
Disorders (FASD) and Autism or Asperger’s Disorder – A 
Neurodevelopmental Frame for Helping Understanding and 
Management 451 
Kieran D. O’Malley

21 Autism Spectrum Disorders in People with Sensory and 
Intellectual Disabilities Symptom Overlap and Differentiating 
Characteristics 477 
Gitta De Vaan, Mathijs P.J. Vervloed, Harry Knoors and Ludo 

Section 6 of the textbook : Aetiological Factors - Parents and Families .

22 Empowering Families in the Treatment of Autism 501 
Jennifer Elder

23 Collaboration Between Parents of Children with Autism 
Spectrum Disorders and Mental Health Professionals 519 
Efrosini Kalyva

Section 7 of the textbook : Aetiological Factors - Intervention in Person with Autism .

24 Early Intensive Behavioural Intervention in Autism Spectrum 
Disorders 565 
Olive Healy and Sinéad Lydon

25 Feeding Issues Associated with the Autism Spectrum 
Disorders 597 
Geneviève Nadon, Debbie Feldman and Erika Gisel

26 Clinical Approach in Autism: Management and 
Treatment 631 
Rudimar Riesgo, Carmem Gottfried and Michele Becker

27 Building an Alternative Communication System for Literacy of 
Children with Autism (SCALA) with Context-Centered Design 
of Usage 655 
Liliana Maria Passerino and Maria Rosangela Bez

28 Addressing Communication Difficulties of Parents of Children 
of the Autism Spectrum 681 
Fernanda Dreux Miranda Fernandes, Cibelle Albuquerque de La 
Higuera Amato, Danielle Azarias Defense-Netvral, Juliana Izidro 
Balestro and Daniela Regina Molini-Avejonas

29 Early Intervention of Autism: A Case for Floor Time 
Approach 689 
Rubina Lal and Rakhee Chhabria

30 Early Communication Intervention for Children with Autism 
Spectrum Disorders 717 
Gunilla Thunberg

Section 8 of the textbook : Aetiological Factors - The Autistic Self and Creativity .

31 Atypical Sense of Self in Autism Spectrum Disorders: A Neuro- 
Cognitive Perspective 747 
Viktoria Lyons and Michael Fitzgerald

32 Critical Evaluation of the Concept of Autistic Creativity 769 
Viktoria Lyons and Michael Fitzgerald . 

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Published by: Unknown - Thursday, March 14, 2013


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